Canonical Allele Identifier: CA337664

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603572G>A , CM000678.2:g.23603572G>A	GRCh38
NC_000016.9:g.23614893G>A , CM000678.1:g.23614893G>A	GRCh37
NC_000016.8:g.23522394G>A	NCBI36
NG_007406.1:g.42786C>T , LRG_308:g.42786C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3448C>T MANE Select	NP_078951.2:p.Leu1150Phe
ENST00000261584.9:c.3448C>T MANE Select	ENSP00000261584.4:p.Leu1150Phe
NM_024675.3:c.3448C>T , LRG_308t1:c.3448C>T	NP_078951.2:p.Leu1150Phe
ENST00000261584.8:c.3448C>T	ENSP00000261584.4:p.Leu1150Phe
ENST00000561514.2:c.2563C>T	ENSP00000460666.2:p.Leu855Phe
ENST00000561514.3:c.3454C>T	ENSP00000460666.3:p.Leu1152Phe
ENST00000565038.2:c.*933C>T	ENSP00000459882.2:n.*933C>T
ENST00000566069.5:c.214C>T
ENST00000566069.6:c.*83C>T	ENSP00000459237.2:n.*83C>T
ENST00000568219.5:c.2563C>T	ENSP00000454703.2:p.Leu855Phe
ENST00000697374.1:c.2563C>T	ENSP00000513284.1:p.Leu855Phe
ENST00000697375.1:n.4795C>T
ENST00000697376.1:c.*83C>T	ENSP00000513285.1:n.*83C>T
ENST00000697377.1:c.2401C>T	ENSP00000513286.1:p.Leu801Phe
ENST00000697377.2:c.3292C>T	ENSP00000513286.2:p.Leu1098Phe
ENST00000697378.1:n.3968C>T
ENST00000697379.1:c.2563C>T	ENSP00000513287.1:p.Leu855Phe
ENST00000697379.2:c.3454C>T	ENSP00000513287.2:p.Leu1152Phe
ENST00000697380.1:n.2652C>T
ENST00000697381.1:n.2143C>T
ENST00000697382.1:c.*225C>T	ENSP00000513288.1:n.*225C>T
ENST00000697383.1:c.982C>T	ENSP00000513289.1:p.Leu328Phe
XM_011545946.1:c.3454C>T	XP_011544248.1:p.Leu1152Phe
XM_011545946.2:c.3454C>T	XP_011544248.1:p.Leu1152Phe
XM_011545947.1:c.*83C>T	XP_011544249.1:n.*83C>T
XM_011545947.2:c.*83C>T	XP_011544249.1:n.*83C>T
XM_011545948.1:c.2563C>T	XP_011544250.1:p.Leu855Phe
XM_011545948.2:c.2563C>T	XP_011544250.1:p.Leu855Phe
XM_017023671.1:c.3217C>T	XP_016879160.1:p.Leu1073Phe
XM_017023672.2:c.3211C>T	XP_016879161.1:p.Leu1071Phe
XM_017023673.2:c.*83C>T	XP_016879162.1:n.*83C>T
XR_950851.1:n.4156C>T